Gene Gene information from NCBI Gene database.
Entrez ID 160428
Gene name Aldehyde dehydrogenase 1 family member L2
Gene symbol ALDH1L2
Synonyms (NCBI Gene)
mtFDH
Chromosome 12
Chromosome location 12q23.3
Summary This gene encodes a member of both the aldehyde dehydrogenase superfamily and the formyl transferase superfamily. This member is the mitochondrial form of 10-formyltetrahydrofolate dehydrogenase (FDH), which converts 10-formyltetrahydrofolate to tetrahydr
miRNA miRNA information provided by mirtarbase database.
493
miRTarBase ID miRNA Experiments Reference
MIRT719688 hsa-miR-1306-5p HITS-CLIP 19536157
MIRT719687 hsa-miR-660-3p HITS-CLIP 19536157
MIRT719686 hsa-miR-4722-3p HITS-CLIP 19536157
MIRT719685 hsa-miR-6727-3p HITS-CLIP 19536157
MIRT719684 hsa-miR-6747-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0003824 Function Catalytic activity IEA
GO:0004029 Function Aldehyde dehydrogenase (NAD+) activity IBA
GO:0005515 Function Protein binding IPI 28514442, 32814053, 33961781
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613584 26777 ENSG00000136010
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q3SY69
Protein name Mitochondrial 10-formyltetrahydrofolate dehydrogenase (Mitochondrial 10-FTHFDH) (mtFDH) (EC 1.5.1.6) (Aldehyde dehydrogenase family 1 member L2)
Protein function Mitochondrial 10-formyltetrahydrofolate dehydrogenase that catalyzes the NADP(+)-dependent conversion of 10-formyltetrahydrofolate to tetrahydrofolate and carbon dioxide.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00551 Formyl_trans_N 23 202 Formyl transferase Domain
PF02911 Formyl_trans_C 226 330 Formyl transferase, C-terminal domain Domain
PF00550 PP-binding 346 411 Phosphopantetheine attachment site Domain
PF00171 Aldedh 451 919 Aldehyde dehydrogenase family Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in pancreas, heart, brain and skeletal muscle. {ECO:0000269|PubMed:20498374}.
Sequence
MLRRGSQALRRFSTGRVYFKNKLKLALIGQSLFGQEVYSHLRKEGHRVVGVFTVPDKDGK
ADPLALAAEKDGTPVFKLPKWRVKGKTIKEVAEAYRSVGAELNVLPFCTQFIPMDIIDSP
KHGSIIYHPSILPRHRGASAINWTLIMGDKKAGFSVFWADDGLDTGPILLQRSCDVEPND
TVDALYNRFLFPEGIKAMVEAV
QLIADGKAPRIPQPEEGATYEGIQKKENAEISWDQSAE
VLHNWIRGHDKVPGAWTEINGQMVTFYGSTLLNSSVPPGEPLEIKGAKKPGLVTKNGLVL
FGNDGKALTVRNLQFEDGKMIPASQYFSTG
ETSVVELTAEEVKVAETIKVIWAGILSNVP
IIEDSTDFFKSGASSMDVARLVEEIRQKCGGLQLQNEDVYMATKFEGFIQK
VVRKLRGED
QEVELVVDYISKEVNEIMVKMPYQCFINGQFTDADDGKTYDTINPTDGSTICKVSYASLA
DVDKAVAAAKDAFENGEWGRMNARERGRLMYRLADLLEENQEELATIEALDSGAVYTLAL
KTHIGMSVQTFRYFAGWCDKIQGSTIPINQARPNRNLTFTKKEPLGVCAIIIPWNYPLMM
LAWKSAACLAAGNTLVLKPAQVTPLTALKFAELSVKAGFPKGVINIIPGSGGIAGQRLSE
HPDIRKLGFTGSTPIGKQIMKSCAVSNLKKVSLELGGKSPLIIFNDCELDKAVRMGMGAV
FFNKGENCIAAGRLFVEESIHDEFVTRVVEEIKKMKIGDPLDRSTDHGPQNHKAHLEKLL
QYCETGVKEGATLVYGGRQVQRPGFFMEPTVFTDVEDYMYLAKEESFGPIMVISKFQNGD
IDGVLQRANSTEYGLASGVFTRDINKAMYVSEKLEAGTVFINTYNKTDVAAPFGGVKQSG
FGKDLGEEALNEYLKTKTV
TLEY
Sequence length 923
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  One carbon pool by folate
Metabolic pathways
  Metabolism of folate and pterines
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
COMPLEX NEURODEVELOPMENTAL DISORDER GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Breast Neoplasms Inhibit 37245210
★☆☆☆☆
Found in Text Mining only
Calcinosis Cutis Inhibit 37245210
★☆☆☆☆
Found in Text Mining only
Glioblastoma Associate 35565854
★☆☆☆☆
Found in Text Mining only
Hypoxia Associate 35799115
★☆☆☆☆
Found in Text Mining only
Leukemia Myeloid Acute Associate 33253299
★☆☆☆☆
Found in Text Mining only
Nasopharyngeal Carcinoma Associate 34680942
★☆☆☆☆
Found in Text Mining only
Neoplasm Metastasis Inhibit 37245210
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 35565854, 37245210
★☆☆☆☆
Found in Text Mining only